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Start Over Author "Puech, B" Journal revue neurologique
2 results on '"Puech, B"'

2. [Kjellin syndrome].

Author

Ferriby D, Stojkovic T, De Seze J, Puech B, Josien E, Hache JC, and Vermersch P

Subjects
Adult, Female, Humans, Syndrome, Intellectual Disability, Macular Degeneration, Paraparesis, Spastic, Vision Disorders
Abstract

A previously healthy 30-year-old woman who had cognitive impairment since childhood suddenly developed progressive spastic paraparesis. Visual impairment and characteristic retinal macular spots supported the diagnosis of Kjellin syndrome. This disease, probably transmitted by autosomal recessive inheritance, is seldom observed in clinical practice. We describe the characteristics of Kjellin syndrome and the differential diagnosis, including other macular changes associated with spastic paraparesis.

Published
2001

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